What is congenital Amegakaryocytic thrombocytopenia?
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, inherited disorder characterized by a severely low number of megakaryocytes, a type of bone marrow cell that makes platelets that are important for clotting and preventing bleeding.
What causes congenital Amegakaryocytic thrombocytopenia?
It presents with bleeding recognized on day 1 of life or at least within the first month. The cause for this disorder appears to be a mutation in the gene for the thrombopoeitin (TPO) receptor, c-Mpl, despite high levels of serum TPO.
What is Megakaryocytic aplasia?
megakaryocytic aplasia (APMA), is a rare hemato- logic disorder. APMA is characterized by severe. thrombocytopenia resulting from marked decrease. or absence of megakaryocytes in the marrow in the.
What is neonatal alloimmune thrombocytopenia?
Neonatal alloimmune thrombocytopenia, (NAIT) is caused by maternal antibodies raised against alloantigens carried on fetal platelets. Although many cases are mild, NAIT is a significant cause of morbidity and mortality in newborns and is the most common cause of intracranial haemorrhage in full-term infants.
What is Pearson syndrome?
Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder.
What is Amegakaryocytic thrombocytopenic purpura?
Introduction. Acquired amegakaryocytic thrombocytopenic purpura (AATP) is an uncommon hematological disorder, characterized by severe thrombocytopenia and significantly decreased to absent marrow megakaryocytes in an otherwise normal bone marrow.
Is neonatal alloimmune thrombocytopenia a rare disease?
Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births.
How do you test for Alloimmune thrombocytopenia?
The primary tests for neonatal alloimmune thrombocytopenia (NAIT) are an initial CBC with platelet count to confirm thrombocytopenia, followed by a maternal serum test for platelet alloantibodies. (Neonatal samples are discouraged for circulating antibody testing due to insensitivity.
What can cause thrombocytopenia?
Under other circumstances production is normal, but platelets are removed prematurely from the blood. Causes of thrombocytopenia can include: A bone marrow disease or treatment for disease. For instance, diseases such as leukemia (cancer of the bone marrow and bloodstream) and lymphoma (cancer of the lymph system)…
What is considered severe thrombocytopenia?
Severe thrombocytopenia: Severe thrombocytopenia refers to a serious lack of enough platelets, blood cells that are critical to effective blood clotting.
Does phenytoin cause thrombocytopenia?
Thrombocytopenia is found among people who take Phenytoin, especially for people who are female, 60+ old , have been taking the drug for < 1 month, also take medication Lamotrigine , and have Convulsion.
Is thrombocytopenia hereditary?
Known as inherited thrombocytopenia or familial thrombocytopenia, low platelets are caused by a genetic mutation (or an inherited mutation), not by autoantibodies , as is the case with primary ITP . There are many forms of inherited thrombocytopenia, all of them rare.